A5T (p.Ala5Thr) variant of GUCY2D (Retinal guanylyl cyclase 1)
A5T (p.Ala5Thr) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Leber congenital amaurosis 1; Cone-rod dystrophy 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
A5T (p.Ala5Thr) variant details
- p.Ala5Thr
- rs1975657312
- ClinGen CA397942285
- ClinVar RCV001205998
- NCI-TCGA TCGA novel
- Uncertain significance
- Leber congenital amaurosis 1; Cone-rod dystrophy 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.13
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 10.20
- PolyPhen-2 0.00
- SIFT 0.80
- ClinVar: Uncertain significance (Leber congenital amaurosis 1; Cone-rod dystrophy 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3e-05)
- Structural context available
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)